Canonical Allele Identifier: CA355965294

Gene: IDUA

Linked Data

• MyVariant Identifiers: chr4:g.997413A>G (hg19) ; chr4:g.1003625A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.1003625A>G , CM000666.2:g.1003625A>G	GRCh38
NC_000004.11:g.997413A>G , CM000666.1:g.997413A>G	GRCh37
NC_000004.10:g.987413A>G	NCBI36
NG_008103.1:g.21629A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000247933.9:c.1727A>G	ENSP00000247933.4:p.Lys576Arg
ENST00000514224.2:c.1727A>G MANE Select	ENSP00000425081.2:p.Lys576Arg
ENST00000652070.1:n.1783A>G
ENST00000247933.8:c.1727A>G	ENSP00000247933.4:p.Lys576Arg
ENST00000514224.1:c.1331A>G	ENSP00000425081.1:p.Lys444Arg
ENST00000514417.1:n.119A>G
ENST00000514698.5:n.1834A>G
NM_000203.4:c.1727A>G	NP_000194.2:p.Lys576Arg
NR_110313.1:n.1815A>G
XM_006713882.2:c.1331A>G	XP_006713945.1:p.Lys444Arg
XM_011513459.1:c.1793A>G	XP_011511761.1:p.Lys598Arg
XM_011513460.1:c.1586A>G	XP_011511762.1:p.Lys529Arg
XM_011513461.1:c.1520A>G	XP_011511763.1:p.Lys507Arg
XM_011513462.1:c.1439A>G	XP_011511764.1:p.Lys480Arg
XM_011513463.1:c.1439A>G	XP_011511765.1:p.Lys480Arg
XR_924947.1:n.1983A>G
NM_000203.5:c.1727A>G MANE Select	NP_000194.2:p.Lys576Arg
NM_001363576.1:c.1331A>G	NP_001350505.1:p.Lys444Arg
XM_011513461.2:c.1520A>G	XP_011511763.1:p.Lys507Arg
XM_017008163.1:c.767A>G	XP_016863652.1:p.Lys256Arg